Alterations in Purine Metabolism in Cultured Fibroblasts with HGPRT Deficiency and with PRPP Synthetase Superactivity
Within the last decade, two different inborn enzyme abnormalities were identified as causing excessive purine production in man: deficiency of hypoxanthine-guanine phosphoribosyltransferase(HGPRT) whether partial (1) or complete (2), and superactivity of 5-phospho-ribosyl-1-pyrophosphate (PRPP)synthetase, due to feedback-resistance (3–5) or various other molecular alterations. The finding of excessive de novo purine nucleotide synthesis in these enzyme abnormalities has contributed markedly to the understanding of the normal metabolism of purines in man, mainly in revealing the importance of HGPRT activity and of PRPP availability in the regulation of de novo purine synthesis.
KeywordsGuanine Nucleotide Purine Metabolism Nucleotide Synthesis Purine Synthesis Purine Derivative
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